Population‐based retrieval of newborn dried blood spots for researching paediatric cancer susceptibility genes

Abstract

We have demonstrated the feasibility of linking newborn blood spots, population-based cancer incidence data and birth certificate data. Incident cases of acute lymphocytic leukaemia and population-based controls were ascertained. We retrieved dried blood spot specimens, isolated and amplified DNA, and assayed the cancer susceptibility genes GSTT1 and GSTM1. The double null genotype was over-represented in the cases, consistent with previous reports based on other epidemiological methods. The design avoids issues of participation bias by cases and controls and can be used to investigate interactions of susceptibility genes and xenobiotics in semi-ecological studies. It can be useful for generating or testing hypotheses on associations of other paediatric illness and environmental contaminants.

Biological sample collections from minors for genetic research: a systematic review of guidelines and position papers

“…Collections that were originally gathered for different purposes, for example blood spot cards for newborn screening, could be reused for genetic research. 2 Genetic research on biological material from minors and the associated medical records can yield valuable information on the development and genesis of early-onset genetic disorders and the early interaction of environmental and genetic factors. For example, Rasmussen 3 describes the incorporation of DNA sample collections into the 'National Birth Defects Prevention Study' in the United States to identify the risk factors for birth defects.…”

Newborn Screening Archives as a Specimen Source for Epidemiologic Studies: Feasibility and Potential for Bias

“…We collected DBS from newborn screening archives for 94% of children born in months when DBS cards were catalogued, similar to a study in another state [8]. All our genotyping assays were completed for all children with DBS, with genotype/allele frequencies similar to studies using DNA from fresh blood [25,28,29,[32][33][34].…”

“…However, the climate in western Washington is moderate, and our assays mainly required short amplicons. In a separate study in another state using similar methods on DBS of similar age, GST genotyping was completed for 97% of children born in the later years, but only 3% born in earlier years, when specimens reached high temperatures during storage [8]. Nevertheless, DNA in DBS stored in tropical conditions for at least ten years was stable enough for genotyping of all of specimens with assays requiring 255, 674 and 1039 bp amplicons [36].…”

“…Occasionally, researchers have used such archives to collect specimens for specific individuals participating in new or existing epidemiologic studies, the potential benefits including cost-efficiency, reduced subject burden, inclusion of deceased subjects, and use of pre-diagnosis specimens. Examples include a large prospective cohort study evaluating the maternal-fetal transmission of toxoplasmosis [6], case-control studies of childhood cancer and chemical metabolism genes [7,8], and case series demonstrating genetic alterations associated with childhood leukemia [9]. DBS have also been used to measure possible indicators of infection [10][11][12], inflammation [13,14], nutritional status [15][16][17], and environmental exposure [18,19].…”

Current and future use of “dried blood spot” analyses in clinical chemistry

“…DNA micro-extraction from dried blood has allowed the detection of mutations responsible for diseases such as cystic fibrosis [124], X fragile syndrome [107], spinal muscular atrophy [106], cancers [77] and thalassemia [105]. DBS, which is a fairly inexpensive sampling and storage method, is also a good choice for genetic material biobanks [125].…”